Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency

Nature Genetics

Volumn 12, Issue 2, 1996, Pages 168-173

  Cherif Zahar, Baya ^a   Raynal, Virginie ^a   Gane, Pierre ^a   Mattei, Marie Geneviève ^b   Bailly, Pascal ^a   Gibbs, Brian ^c   Colin, Yves ^a   Cartron, Jean Pierre ^a  

^a INSTITUT NATIONAL DE LA TRANSFUSION SANGUINE   (France)

^b INSERM   (France)

^c W Prov Blood Transfusion Service   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPHORIN B; GLYCOPROTEIN; RHESUS ANTIGEN;

ALLELE; ARTICLE; BLOOD GROUP RHESUS SYSTEM; CHROMOSOME 6P; CHROMOSOME MAP; CONTROLLED STUDY; ERYTHROCYTE MEMBRANE; GENE MUTATION; HUMAN; NEWBORN HEMOLYTIC DISEASE; PRIORITY JOURNAL; SUPPRESSOR GENE;

AMINO ACID SEQUENCE; ANEMIA, HEMOLYTIC; ANTIGENS, CD; ANTIGENS, CD47; BASE SEQUENCE; BLOOD PROTEINS; CARRIER PROTEINS; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; ERYTHROCYTE MEMBRANE; FEMALE; GENES, SUPPRESSOR; GLYCOPROTEINS; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RH-HR BLOOD-GROUP SYSTEM; RNA, MESSENGER;

EID: 0030061717     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0296-168     Document Type: Article

References (32)

1. Agre, P. & Cartron, J.P. Molecular biology of the Rh antigens. Blood 78, 551-563 (1991).
2. Cartron, J.P. & Agre, P. Rh blood group antigens: protein and gene structure, Semin. Haemat. 30, 193-208 (1993).
3. Race, R.R. & Sanger, R. The Rh blood Groups. In Blood Groups in Man, 6th edn. 78-260 (Blackwell, Oxford, 1975).
4. Tippett, P. Regulator genes affecting red cell antigens. Transfusion Medicine Rev. 4, 56-68 (1990).
5. Ishimori, T. & Hasekura, H. A Japanese with no detectable Rh blood group antigens due to silent Rh alleles or deleted chromosomes. Transfusion 7, 84-87 (1967).
6. Nash, R. & Shojania, A.H. Hematological aspect of Rh deficiency syndrome: a case report and review of the literature. Am. J. Hematol. 24, 267-275 (1987).
7. Lauf, P.K. & Joiner, C.H. Increased potassium transport and ouabain binding in human Rh-null red blood cells. Blood 48, 457-468 (1976).
8. Ballas, S. et al. Red cell membranes and cation deficiency in Rh-null syndrome. Blood 63, 1046-1055 (1984).
9. Kuypers, F. et al. Rh-null human erythrocytes have an abnormal membrane phospholipid organization. Biochem. J. 221, 931-934 (1984).
10. Anstee, D.J. & Tanner, M.J.A. Biochemical aspects of the blood group Rh (rhesus) antigens. In Baillère's Clinical Haematology, Red Cell Membrane and Red Cell Antigens, Vol. 6, 401-422 (Ballière Tindall, London, 1993).
11. Cartron, J.P. Defining the Rh blood group antigens. Blood Rev. 8, 199-212 (1994).
12. Avert, N.D. et al. Monoclonal antibodies that recognize different membrane proteins that are deficient in Rhnull human erythrocytes. Biochem. J. 251, 499-505 (1988).
13. Mawby, W.J., Holmes, C.H., Anstee, D.J., Spring, F. & Tanner, M.J.A. Isolation and characterization of CD47 glycoprotein: a multispanning membrane protein which is the same as integrin-associated protein (IAP) and the ovarian tumor marker OA3. Biochem. J. 304, 525-530 (1994).
14. Campbell, I.G., Freemont, P.S., Foulkes, W. & Trowsdale, J. An ovarian tumor marker with homotogy to vaccinia virus contains an IgV-like region and multiple transmembrane domains. Cancer Res. 52, 5416-5420 (1992).
15. Lindberg, F.P. et al. Rh-related antigen CD47 is the signal transducer integrin-associated protein. J. Biol. Chem. 269, 1567-1570 (1994).
16. Schwartz, M.A., Brown, E.J. & Fazeli, B. A 50 kDa integrin-associated protein is required for integrin-regulated calcium entry in endothelilal cells. J. Biol. Chem. 268, 19931-19934 (1993).
17. Ridgwell, K., Spurr, N.K., Laguda, B., Macgeoch, C., Avent, N.D. & Tanner, M.J.A. Isolation of cDNA clones for a 50 kDa glycoprotein of the human erythrocyte membrane associated with Rh (Rhesus) blood group antigen expression. Biochem. J. 287, 223-228 (1992).
18. Eyers, S.A.C., Ridgwell, K., Mawby, W.J. & Tanner, M.J.A. Topology and organization of human Rh (Rhesus) blood group related polypeptides. J. Biol. Chem. 269, 6417-6423 (1994).
19. Chérif-Zahar, B. et al. Structure and expression of the RH locus in the Rh-deficiency syndrome. Blood 82, 656-662 (1993).
20. Carritt, B., Blunt, T., Avert, N.D., Daniels, G. & Steers, F. Rhnull phenotypes are not due to a gross deletion and can occur on different genetic backgrounds. Am. Hum. Genet. 57, 273-279 (1993).
21. Alloisra, N. et al. Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C. Blood 82, 1323-1327 (1993).
22. Triglia, T., Peterson, M.G. & Kemp, D.J. A procedure for in vitro amplification of DNA segments that lie outside the boundaries of known sequences. Nucl. Acids Res. 16, 8186 (1988).
23. Cherif-Zahar, B., Mattei, M.G., Le Van Kim, C., Cartron, J.P. & Colin, Y. Localization of the human Rh blood group gene structure to chromosome region 1p34.3-p36.1 by in situ hybridization. Hum. Genet. 86, 398-400 (1991).
24. Gardner, B., Anstae, D.J., Mawby, W.J., Tanner, M.J.A. & vor dem Borne, A.E.G. Kr. The abundance and organization of polypeptides associated with antigens of the Rh blood group system. Transfusion Med. 1, 77-85 (1991).
25. Poss, M.T., Swanson, J.L., Telen, M.J., Lasky, L.C. & Vallera, D.A. Monoclonal antibody recognizing a unique Rh-related specificity. Vox. Sang. 64, 231-239 (1993).
26. Deen, P.M.T., Cross, H., van Aubel, R.A.M.H., Ginsel, L.A. & van Os, C.H. Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. J. Clin. Invest. 95, 2291-2296 (1995).
27. Hermand, P. et al. Immunochemical characterization of Rhesus proteins with antibodies raised against synthetic peptides. Blood 82, 669-676 (1993).
28. Mollison, P.L., Engelfriet, C.P. & Contreras, M. In Blood Transfusion in Clinical Medicine, 9th edn., 204-245 (Blackwell, London, 1993).
29. b blood group polymorphism. Hum. Genet. 95, 407-410 (1995).
30. Izraeli, S., Pfleiderer, C. & Lion, T. Detection of gene expression by PCR amplification of RNA derived from frozen heparinized whole blood. Nucl. Acids Res. 19, 6051 (1991).
31. Sanger, F., Nicklen, S. & Coulson, A.R. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA 74, 5463-5467 (1977).
32. Mattei, M.G., Phillip, N., Passage, E., Moisan, J.P., Mandel, J.L. & Mattei, J.F. DNA probe localization at 18p11.3 band by in situ hybridization and identification of a small supernumerary chromosome. Hum. Genet. 89, 268-271 (1985).